ORPHA:93328
Autosomal dominant omodysplasia
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Omodysplasia
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant omodysplasia | |
| fr | Omodysplasie autosomique dominante | |
| de | Omodysplasie, autosomal-dominante Form | |
| es | Omodisplasia, forma autosómica dominante | |
| it | Omodisplasia, forma autosomica dominante | |
| nl | Autosomaal dominante omodysplasie | |
| pt | Omodisplasia autossómica dominante | |
| pl | Autosomalna dominująca omodysplazja | |
| cs | Autozomálně dominantní omodysplázie | |
| uk | Аутосомно-домінантна омодисплазія | |
| zh | 常染色体显性肩胛骨发育不良 | |
| tr | Otozomal dominant omodisplazi |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 164745 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0008123 | E | validated | |
| MeSH | C567664 | E | validated | |
| UMLS | C2750355 | E | validated | |
| GARD | 3643 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2733Omodysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FZD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:4040 | ENSG00000180340 | 600667 | 17q21.31 | frizzled class receptor 2 | 25759469[PMID] |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0003042 | Elbow dislocation | |
| HP:0008905 | Rhizomelia | |
| HP:0010034 | Short 1st metacarpal | |
| HP:0005792 | Short humerus | |
| Frequent (79-30%) | ||
| HP:0000048 | Bifid scrotum | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000343 | Long philtrum | |
| HP:0000272 | Malar flattening | |
| HP:0003196 | Short nose | |
| Occasional (29-5%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0000347 | Micrognathia | |
| HP:0002999 | Patellar dislocation | |
| HP:0004279 | Short palm | |
Run the differential on the 5 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93328
- This record as JSON: /data/d/93328.json